Varaico: Literature-Extracted Genetic Variants

MYOD1

186 papers

RefSeq Summary

This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing ...

Pfam Domains

Basicaa 27–109UCSCMyogenic Basic domain

HLHaa 110–161UCSCHelix-loop-helix DNA-binding domain

Myf5aa 191–259UCSCMyogenic determination factor 5

Gene Aliases

HGNC Name

myogenic differentiation 1

HGNC Previous Symbol

MYF3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002478.5

p.A68T

c.202G>A

Surrounding Variants

2 papers

NM_002478.5

p.F65Y

c.194T>A

1 paper

NM_002478.5

p.A72G

c.215C>G

1 paper

NM_002478.5

p.S63S

c.189G>A

6 papers

NM_002478.5

p.S63*

c.188C>A

1 paper

NM_002478.5

p.A72A

c.216C>G

1 paper

NM_002478.5

p.P73L

c.218C>T

2 papers

NM_002478.5

p.E61D

c.183G>C

2 papers

NM_002478.5

p.E61D

c.183G>T

1 paper

NM_002478.5

p.R76insFs

c.226_227ins5

1 paper

NM_002478.5

p.R76fs

c.226_227fs

1 paper

NM_002478.5

p.R76P

c.227G>C

1 paper

NM_002478.5

p.P59T

c.175C>A